ITEM METADATA RECORD
Title: Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression
Authors: Achouitar, Samira ×
Mohamed, Miski
Gardeitchik, Thatjana
Wortmann, Saskia B
Sykut-Cegielska, Jolanta
Ensenauer, Regina
de Baulny, Hélène Ogier
Ounap, Katrin
Martinelli, Diego
de Vries, Maaike
McFarland, Robert
Kouwenberg, Dorus
Theodore, Miranda
Wijburg, Frits
Grünewald, Stephanie
Jaeken, Jaak
Wevers, Ron A
Nijtmans, Leo
Elson, Joanna
Morava, Eva #
Issue Date: May-2011
Publisher: MTP Press
Series Title: Journal of Inherited Metabolic Disease
Abstract: Congenital disorders of glycosylation (CDG) are a group of clinically heterogeneous inborn errors of metabolism. At present, treatment is available for only one CDG, but potential treatments for the other CDG are on the horizon. It will be vitally important in clinical trials of such agents to have a clear understanding of both the natural history of CDG and the corresponding burden of disability suffered by patients. To date, no multicentre studies have attempted to document the natural history of CDG. This is in part due to the lack of a reliable assessment tool to score CDG's diverse clinical spectrum. Based on our earlier experience evaluating disease progression in disorders of oxidative phosphorylation, we developed a practical and semi-quantitative rating scale for children with CDG. The Nijmegen Paediatric CDG Rating Scale (NPCRS) has been validated in 12 children, offering a tool to objectively monitor disease progression. We undertook a successful trial of the NPCRS with a collaboration of nine experienced physicians, using video records of physical and neurological examination of patients. The use of NPCRS can facilitate both longitudinal and natural history studies that will be essential for future interventions.
URI: 
ISSN: 0141-8955
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Brain & Metabolism Section (-)
Section Child - Miscellaneous (-)
× corresponding author
# (joint) last author

Files in This Item:

There are no files associated with this item.

Request a copy

 




All items in Lirias are protected by copyright, with all rights reserved.

© Web of science